作者
Günter U Höglinger, Nadine M Melhem, Dennis W Dickson, Patrick MA Sleiman, Li-San Wang, Lambertus Klei, Rosa Rademakers, Rohan De Silva, Irene Litvan, David E Riley, John C Van Swieten, Peter Heutink, Zbigniew K Wszolek, Ryan J Uitti, Jana Vandrovcova, Howard I Hurtig, Rachel G Gross, Walter Maetzler, Stefano Goldwurm, Eduardo Tolosa, Barbara Borroni, Pau Pastor, Laura B Cantwell, Mi Ryung Han, Allissa Dillman, Marcel P van der Brug, J Raphael Gibbs, Mark R Cookson, Dena G Hernandez, Andrew B Singleton, Matthew J Farrer, Chang-En Yu, Lawrence I Golbe, Tamas Revesz, John Hardy, Andrew J Lees, Bernie Devlin, Hakon Hakonarson, Ulrich Müller, Gerard D Schellenberg
发表日期
2011/7
期刊
Nature genetics
卷号
43
期号
7
页码范围
699-705
出版商
Nature Publishing Group US
简介
Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10−3. We found significant previously unidentified signals (P < 5 × 10−8) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle …
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GU Höglinger, NM Melhem, DW Dickson, PMA Sleiman… - Nature genetics, 2011